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Quoted phrase not found in phrase index: "Pontocerebellar hypoplasia type 8"
Page 1
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.
BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. ...Patients in this cohort were referred with a tentative diagnose PCH type 1, 2, 4, 7 or unclassified PCH. Genetic analysis of the EXOSC3 gene …
BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. ...Patient …
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Ramadesikan S, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091508 Free PMC article.
The SEPSECS gene encodes O-phosphoseryl-tRNA(Sec) selenium transferase, an enzyme that participates in the biosynthesis and transport of selenoproteins in the body. Variations in SEPSECS cause autosomal recessive pontocerebellar hypoplasia type 2D (PCHT 2D; O …
The SEPSECS gene encodes O-phosphoseryl-tRNA(Sec) selenium transferase, an enzyme that participates in the biosynthesis and transport of sel …
Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.
Radvanska E, Pos Z, Zatkova A, Hyblova M, Bauer F, Szemes T, Kadasi L, Radvanszky J. Radvanska E, et al. Bratisl Lek Listy. 2022;123(8):568-572. doi: 10.4149/BLL_2022_090. Bratisl Lek Listy. 2022. PMID: 35852507
BACKGROUND: Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA). ...PCH1B should be considered for a differential dia …
BACKGROUND: Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction ass …
Analysis and classification of cerebellar malformations.
Patel S, Barkovich AJ. Patel S, et al. AJNR Am J Neuroradiol. 2002 Aug;23(7):1074-87. AJNR Am J Neuroradiol. 2002. PMID: 12169461 Free PMC article.
Patients with focal cerebellar dysplasia of the Joubert (n = 12) and rhombencephalosynapsis (n = 8) types had variable cerebral dysplasia. Patients with nonsyndromic focal cerebellar dysplasia (isolated focal cerebellar cortical dysplasia [n = 2], cerebellar heterotopia wi …
Patients with focal cerebellar dysplasia of the Joubert (n = 12) and rhombencephalosynapsis (n = 8) types had variable cerebral dyspl …
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.
Salman MS, Blaser S, Buncic JR, Westall CA, Héon E, Becker L. Salman MS, et al. J Child Neurol. 2003 Mar;18(3):220-5. doi: 10.1177/08830738030180031201. J Child Neurol. 2003. PMID: 12731647
Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. ...Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in …
Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anter …
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G. Rankin J, et al. Am J Med Genet A. 2010 Aug;152A(8):2079-84. doi: 10.1002/ajmg.a.33531. Am J Med Genet A. 2010. PMID: 20635367
Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, PCH2, PCH4, and PCH6) is known. ...
Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of the …
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Abreu NJ, et al. Am J Med Genet A. 2020 Mar;182(3):557-560. doi: 10.1002/ajmg.a.61452. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833174
Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the AMPD2 gene. ...Given the strong phenotypic overlap with PCH9, including the identification of the typical "Figure 8" app …
Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental disorder caused by pathogenic var …
Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses.
Zhang Y, Yan L, Xie M, Xue J, Yang X, Xue Y, Tian L, Li H. Zhang Y, et al. Am J Med Genet A. 2023 Aug;191(8):2193-2197. doi: 10.1002/ajmg.a.63238. Epub 2023 May 9. Am J Med Genet A. 2023. PMID: 37159429
Mutations in the PPIL1 gene have been linked to type 14 pontocerebellar hypoplasia (PCH14); however, prenatal clinical characteristics of PCH14 caused by mutations in the PPIL1 gene have not been reported. ...
Mutations in the PPIL1 gene have been linked to type 14 pontocerebellar hypoplasia (PCH14); however, prenatal clinical …
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Merino-López A, Chumilla-Calzada S, García-Silva MT, Martínez-Azorín F. Rodríguez-García ME, et al. Neuromuscul Disord. 2021 Aug;31(8):773-782. doi: 10.1016/j.nmd.2021.05.008. Epub 2021 May 28. Neuromuscul Disord. 2021. PMID: 34210538
EXOSC8 is an essential protein of the exosome core, a ubiquitously expressed complex responsible for RNA processing and degradation. Recessive mutations in EXOSC8 cause pontocerebellar hypoplasia type 1C (PCH1C), and currently, only two homozygous variants in …
EXOSC8 is an essential protein of the exosome core, a ubiquitously expressed complex responsible for RNA processing and degradation. Recessi …
Epilepsy in inherited metabolic disorders: a pediatric series.
Vitiello G, De Clemente V, Della Casa R, Romano A, Rosa M, Pascarella A, Riccitelli M, Parenti G, Del Giudice E. Vitiello G, et al. Minerva Pediatr. 2012 Oct;64(5):513-20. Minerva Pediatr. 2012. PMID: 22992533
An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, treatability. Seizure types were: focal (24 patients), generalized (13 patients), febrile (3 patients), and hypoglycemic (8 patients w …
An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, t …
16 results